Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11[beta]-hydroxylase deficiency - Liu, Jidong; Tian, Huihui; Jin, Xinchen; Wang, Yanxiang; Zhang, Zhenhong; Li, Mengxue; Dai, Lulu; Zhang, Xiaoli; Jiang, Ling (BMC endocrine disorders, 2024)
Keywords: ACTH; Corticosteroids; Genes; Genetic disorders; Genetic screening; Hydroxyprogesterone; Hypertension; Intermedin; Medical colleges; Progesterone; Testosterone; China